Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica"
DOI: 10.1007/s00401-019-02019-7
Abstract: Spinocerebellar ataxias (SCAs) are devastating neurodegenerative disorders for which no curative or preventive therapies are available. Deregulation of brain cholesterol metabolism and impaired brain cholesterol turnover have been associated with several neurodegenerative diseases. SCA3 or… read more here.
Keywords: cyp46a1; brain cholesterol; sca3; cholesterol ... See more keywords
A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular neurobiology"
DOI: 10.1007/s12035-021-02610-8
Abstract: Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyglutamine (polyQ)-expansion in the corresponding protein. The disease is… read more here.
Keywords: knock; sca3; disease; model ... See more keywords
From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation
Sign Up to like & getrecommendations! Published in 2019 at "Neurotherapeutics"
DOI: 10.1007/s13311-019-00798-1
Abstract: Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease (MJD), is a neurodegenerative disorder caused by a polyglutamine expansion in the ATXN3 gene. In spite of the identification of a clear monogenic cause 25… read more here.
Keywords: ataxia type; spinocerebellar ataxia; pathogenesis novel; sca3 ... See more keywords
Writer’s cramp: a new dystonic feature in spinocerebellar ataxia type 3
Sign Up to like & getrecommendations! Published in 2018 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-018-1022-9
Abstract: In this article, a case of writer ́s cramp in a patient with spinocerebellar ataxia type 3, also known Machado–Joseph disease, is described. To our knowledge, this is the first description of task-specific dystonia in… read more here.
Keywords: ataxia type; spinocerebellar ataxia; ataxia; sca3 ... See more keywords
Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway
Sign Up to like & getrecommendations! Published in 2018 at "Free Radical Biology and Medicine"
DOI: 10.1016/j.freeradbiomed.2017.12.011
Abstract: ABSTRACT Polyglutamine (polyQ)‐expanded mutant ataxin‐3 protein, which is prone to misfolding and aggregation, leads to cerebellar neurotoxicity in spinocerebellar ataxia type 3 (SCA3), an inherited PolyQ neurodegenerative disease. Although the exact mechanism is unknown, the… read more here.
Keywords: drosophila; ataxia type; spinocerebellar ataxia; sca3 ... See more keywords
Disease-associated oligodendrocyte signatures are spatiotemporally dysregulated in spinocerebellar ataxia type 3
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2023.1118429
Abstract: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN3 gene. Though the ATXN3 protein is expressed ubiquitously throughout the CNS, regional pathology in SCA3 patients is… read more here.
Keywords: oligodendrocyte signatures; disease; associated oligodendrocyte; spinocerebellar ataxia ... See more keywords
Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2021.658339
Abstract: Spinocerebellar ataxia type 3 (SCA3/MJD) is caused by CAG expansion mutation resulting in a long polyQ domain in mutant ataxin-3. The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent… read more here.
Keywords: sca3 mjd; sca3; model; mutant ataxin ... See more keywords
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
Sign Up to like & getrecommendations! Published in 2022 at "Antioxidants"
DOI: 10.3390/antiox11081436
Abstract: SCA1, SCA2, and SCA3 are the most common forms of SCAs among the polyglutamine disorders, which include Huntington’s Disease (HD). We investigated the relationship between leukocyte telomere length (LTL) and the phenotype of SCA1, SCA2,… read more here.
Keywords: sca1 sca2; variability potential; telomere length; leukocyte telomere ... See more keywords